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XX-agonadism in a fetus with multiple dysraphic lesions: A new syndrome

✍ Scribed by Kennerknecht, Ingo; Mattfeldt, Torsten; Paulus, Wolfgang; Nitsch, Christian; Negri, Giovanni; Barbi, Gotthold; Just, Walter; Schwemmle, Sabine; Vogel, Walther

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 135 KB
Volume: 70
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970627)70:4<413::aid-ajmg15>3.0.co;2-k

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✦ Synopsis

We report on a 19-week-old fetus with a 46,XX karyotype, normal female external genitalia, complete gonadal agenesis, large encephalocele, spina bifida, and omphalocele. We postulate a new syndrome. Hitherto no consistent malformation patterns have been observed in agonadism patients. True agonadism, including even the unusual finding of an XX gonosomal status, is obviously not as rare as suggested. Am. J. Med. Genet. 70:413-414, 1997.

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